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Chapter 9 - A Phenomenology-Based Approach to Inborn Errors of Metabolism with Parkinsonism

from Section I - General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Claudio Melo de Gusmao  and
Laura Silveira-Moriyama
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Parkinsonism is a syndrome diagnosed by the presence of cardinal motor features, generally defined as bradykinesia in combination with rigidity, resting tremor, flexed (stooped) posture, and freezing and/or impaired postural reflexes [1, 2]. Bradykinesia, the hallmark feature, is determined by the presence of the “sequence effect” (also known as fatiguing or decrement): repetition leads to progressive decrease in speed and/or amplitude of movements [3]. Hypokinesia describes a small amplitude of movements (with or without fatigue) and akinesia literally means “lack of movement.” Hypokinesia is sometimes equated to parkinsonism (as in “infantile hypokinetic–rigid syndrome”), but technically is not the same phenomenon.

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Chapter
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Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 124 - 142
Publisher: Cambridge University Press
Print publication year: 2020

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